The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies

Semin Pediatr Neurol. 2016 May;23(2):134-42. doi: 10.1016/j.spen.2016.06.002. Epub 2016 Jun 2.

Abstract

Pediatric epileptic encephalopathies represent a clinically challenging and often devastating group of disorders that affect children at different stages of infancy and childhood. With the advances in genetic testing and neuroimaging, the etiologies of these epileptic syndromes are now better defined. The various encephalopathies that are reviewed in this article include the following: early infantile epileptic encephalopathy or Ohtahara syndrome, early myoclonic encephalopathy, epilepsy of infancy with migrating focal seizures, West syndrome, severe myoclonic epilepsy in infancy (Dravet syndrome), Landau-Kleffner syndrome, Lennox-Gastaut syndrome, and epileptic encephalopathy with continuous spike-and-wave during sleep. Their clinical features, prognosis as well as underlying genetic etiologies are presented and updated.

Publication types

  • Review

MeSH terms

  • Epilepsies, Myoclonic* / etiology
  • Epilepsies, Myoclonic* / genetics
  • Epilepsies, Myoclonic* / physiopathology
  • Humans
  • Infant
  • Landau-Kleffner Syndrome* / etiology
  • Landau-Kleffner Syndrome* / genetics
  • Landau-Kleffner Syndrome* / physiopathology
  • Lennox Gastaut Syndrome* / etiology
  • Lennox Gastaut Syndrome* / genetics
  • Lennox Gastaut Syndrome* / physiopathology
  • Spasms, Infantile* / etiology
  • Spasms, Infantile* / genetics
  • Spasms, Infantile* / physiopathology

Supplementary concepts

  • Epileptic Encephalopathy, Early Infantile, 3
  • Infantile Epileptic-Dyskinetic Encephalopathy